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INBORN METABOLIC DISORDER [2 records]
Record 1 - internal organization data 2011-07-08
Record 1, English
Record 1, Subject field(s)
- Endocrine System and Metabolism
Record 1, Main entry term, English
- pyroglutamic acid
1, record 1, English, pyroglutamic%20acid
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- 5-oxoproline 1, record 1, English, 5%2Doxoproline
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
5-oxoprolinuria is a metabolic, disorder caused by an inborn error of glutathione metabolism. It is characterized by excretion of massive amounts of 5-oxoproline(pyroglutamic acid) in the urine, and abnormally high levels of this acid in the blood and cerebrospinal fluid. The disorder is caused by a deficiency of the enzyme glutathione synthetase. Functioning of the central nervous system is impaired. High acidity levels in the blood and body tissues(metabolic acidosis) usually occur. 1, record 1, English, - pyroglutamic%20acid
Record 1, French
Record 1, Domaine(s)
- Systèmes endocrinien et métabolique
Record 1, Main entry term, French
- acide L-pyroglutamique
1, record 1, French, acide%20L%2Dpyroglutamique
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- 5-oxoproline 1, record 1, French, 5%2Doxoproline
correct, feminine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Acidémie pyroglutamique. Maladie métabolique héréditaire récessive autosomique caractérisée par l'accumulation et l'excrétion urinaire excessive d'acide pyroglutamique (5-oxoproline), due au défaut de l'Activité de la glutathionsynthétase. Elle entraîne une anémie hémolytique chronique et une acidose métabolique, cette dernière pouvant faire défaut. 1, record 1, French, - acide%20L%2Dpyroglutamique
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Sistemas endocrino y metabólico
Record 1, Main entry term, Spanish
- ácido piroglutámico
1, record 1, Spanish, %C3%A1cido%20piroglut%C3%A1mico
correct, masculine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2003-07-21
Record 2, English
Record 2, Subject field(s)
- Genetics
Record 2, Main entry term, English
- inborn error of metabolism 1, record 2, English, inborn%20error%20of%20metabolism
Record 2, Abbreviations, English
Record 2, Synonyms, English
- inborn metabolic disorder 1, record 2, English, inborn%20metabolic%20disorder
Record 2, Textual support, English
Record number: 2, Textual support number: 1 OBS
Genetically determined biochemical disorder due to specific congenital defects in the structure or function of protein molecules. 1, record 2, English, - inborn%20error%20of%20metabolism
Record 2, French
Record 2, Domaine(s)
- Génétique
Record 2, Main entry term, French
- maladie enzymatique
1, record 2, French, maladie%20enzymatique
feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
- dysmétabolie 1, record 2, French, dysm%C3%A9tabolie
feminine noun
- erreur innée du métabolisme 2, record 2, French, erreur%20inn%C3%A9e%20du%20m%C3%A9tabolisme
feminine noun
Record 2, Textual support, French
Record number: 2, Textual support number: 1 OBS
Maladie due à un défaut constitutionnel et héréditaire qui empêche la synthèse d'une enzyme: Ex. l'oligophrénie phénylpyruvique. 1, record 2, French, - maladie%20enzymatique
Record 2, Spanish
Record 2, Campo(s) temático(s)
- Genética
Record 2, Main entry term, Spanish
- error innato del metabolismo
1, record 2, Spanish, error%20innato%20del%20metabolismo
correct, masculine noun
Record 2, Abbreviations, Spanish
Record 2, Synonyms, Spanish
Record 2, Textual support, Spanish
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